Clinical Profile of Cystic Fibrosis in India: A Multi-Centric Prospective Study.

backgroundCystic fibrosis (CF) is considered to be extremely rare in India, but over the past few decades, multiple reports suggest that CF occurs in India and clinical features may be different. Reports on clinical features are limited to case series. In this multisite nationwide prospective study, we report the clinical profile of CF in Indian children.

methodsChildren below 18 years of age presenting with suggestive symptoms were enrolled at all the sites using a uniform protocol over a 5-year period at four sites across India. Diagnosis of CF was based on either elevated sweat chloride levels or the presence of two pathogenic CF-causing mutations, together with a clinical phenotype suggestive of the disease. Data collection included demographic, clinical, laboratory profiles, results of the aquagenic wrinkling test and overall outcomes of children diagnosed with CF.

resultsA total of 811 children were enrolled and 313 were diagnosed as CF during the study period. The median age at symptom onset and diagnosis was 2.25 months and 2.58 years, respectively. The common presenting symptoms included chronic cough (280, 89.5%), poor growth (213, 76.9%) and chronic diarrhoea (195, 62.3%). At the time of diagnosis, bronchiectasis on chest CT was present in 233 (90%) patients. Airway cultures grew Pseudomonas aeruginosa in 63 (36.8%), and Staphylococcus aureus in 32 (18.7%) patients. The common mutation was delta F508del, present in 31.3% of patients.

conclusionCF is prevalent across all the geographic regions of India. Delay in diagnosis remains a significant challenge and contributes to the development of severe complications.